Friedreich Ataxia: From the Eye of a Molecular Biologist  

Oleh:

Muthuswamy, Srinivasan ; Agarwal, Sarita

Jenis: Article from Journal - ilmiah internasional
Dalam koleksi: The Neurologist vol. 20 no. 03 (Sep. 2015), page 51-55.
Topik: Friedreich Ataxia; FXN Gene; Frataxin; GAA Repeat Expansion

Ketersediaan

Perpustakaan FK Nomor Panggil: N06.K Non-tandon: 1 (dapat dipinjam: 0) Tandon: tidak ada

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Isi artikel

Friedreich ataxia (FRDA) is caused by the expansion of a GAA triplet repeat in the first intron of the FXN gene. This disease was named after Nicholaus Friedreich, Germany, who depicted the essential finding. Among ataxias, FRDA is the most common hereditary ataxia. It has the autosomal recessive pattern of inheritance. The expansion of the GAA triplet repeat hinders the transcription, thereby reducing the level of the FXN transcript and consequently reducing the level of frataxin, a 210-amino acid protein. The disease pathogenesis is fundamentally due to a lack of frataxin, which is claimed to play a role in iron-sulfur cluster synthesis. Oxidative stress builds up as a result of Fe accumulation in the mitochondria, causing degeneration of the cells, which primarily occurs in the neurons and later in the cardiac tissues, and to some extent in the pancreas. The therapeutic interventions are at infancy; however, current treatments are targeted toward the reduction of iron overload and its effects.

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